Rare multisystem ciliopathy disorders (Version 1.171)

Description

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This panel was created to combine congenital malformations caused by ciliopathies:
- Bardet-Biedl Syndrome
- Joubert syndrome
- Rare multisystem ciliopathy disorders

Gene lists from Dr Thomas Cullup (Great Ormond Street Hospital) and Dr Hannah Mitchison (UCL GOS Institute of Child Health) were added to this panel.  Additional genes for the following disorders were added from the four original sources and Orphanet: 
- Alström syndrome
- Bardet-Biedl syndrome
- Cranioectodermal dysplasia
- Ellis Van Creveld syndrome
- Jeune syndrome
- Joubert syndrome with oculorenal defect
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
- Meckel syndrome
- Nephronophthisis
- Renal-hepatic-pancreatic dysplasia
- RHYNS syndrome
- Saldino-Mainzer syndrome
- Senior-Boichis syndrome
- Senior-Loken syndrome

Panel Activity

23 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
John Sayer (Newcastle University)

Group: GeCIP domain
Workplace: NHS clinical service
Tom Cullup (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Penny Clouston (Oxford)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Beth Hoskins (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Andrea Nemeth (University of Oxford)

Group: GeCIP domain
Workplace: NHS clinical service
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
Caroline Wright (Genomics England Curator)

Group: Other
Workplace: Genomics England
Olivia Niblock (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Gabrielle Wheway (University of the West of England)

Group: GeCIP domain
Workplace: Research lab
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Alice Gardham (Genomics England)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Rhiannon Mellis (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

207 Entities

205 reviewed, 100 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 207 Entitiess
Green Green List (high evidence)	AHI1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Other Phenotypes Joubert syndrome Joubert syndrome-3. Joubert syndrome 3 Tags
Green Green List (high evidence)	ALMS1	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet UKGTN Phenotypes Alstrom syndrome Bardet-Biedl Syndrome 203800 Alstrom Syndrome Tags
Green Green List (high evidence)	ANKS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Nephronophthisis 16, 615382 Nephronophthisis Tags
Green Green List (high evidence)	ARL13B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Joubert syndrome 8 Tags
Green Green List (high evidence)	ARL6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes {Bardet‐Biedl syndrome 1, modifier of} Bardet‐Biedl syndrome 3 Bardet-Biedl Syndrome 268000 Tags
Green Green List (high evidence)	ARMC9	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 30, 617622 Tags
Green Green List (high evidence)	B9D2	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 Tags
Green Green List (high evidence)	BBS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet‐Biedl syndrome 1 Bardet‐Biedl syndrome 13 Bardet‐Biedl syndrome 11 268000 Tags
Green Green List (high evidence)	BBS10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet‐Biedl syndrome 10 Tags
Green Green List (high evidence)	BBS12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet‐Biedl syndrome 12 Tags
Green Green List (high evidence)	BBS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet‐Biedl syndrome 2 Tags
Green Green List (high evidence)	BBS4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet‐Biedl syndrome 4 Tags monogenic-polygenic
Green Green List (high evidence)	BBS5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet‐Biedl syndrome 5 Tags
Green Green List (high evidence)	BBS7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet‐Biedl syndrome 7 Tags
Green Green List (high evidence)	BBS9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet‐Biedl syndrome 9 Tags
Green Green List (high evidence)	C21orf2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Jeune asphyxiating thoracic dystrophy (JATD) Retinal dystrophy with macular staphyloma, 617547 Spondylometaphyseal dysplasia, axial, 602271 Jeune Syndrome Tags new-gene-name
Green Green List (high evidence)	C2CD3	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ?Orofaciodigital syndrome XIV, 615948 short-rib polydactyly syndromes (SRPS MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD MIM208500) Orofaciodigital syndromes (OFDS, MIM 311200) Tags
Green Green List (high evidence)	C5orf42	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Joubert syndrome Oral-facial-digital syndrome type VI Joubert syndrome 17 Tags new-gene-name
Green Green List (high evidence)	CC2D2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome 9 Meckel syndrome 6 COACH syndrome Joubert syndrome with oculorenal defect Meckel syndrome Tags
Green Green List (high evidence)	CCDC32	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiofacioneurodevelopmental syndrome, OMIM:619123 cardiofacioneurodevelopmental syndrome, MONDO:0030873 Tags gene-checked
Green Green List (high evidence)	CENPF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen Phenotypes Stromme syndrome, 243605 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome Tags
Green Green List (high evidence)	CEP104	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 25, 616781 Joubert syndrome 25 Tags
Green Green List (high evidence)	CEP120	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel Jeune syndrome Short-rib thoracic dysplasia 13 with or without polydactyly Tags
Green Green List (high evidence)	CEP164	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 15, 614845 ciliopathies Senior-Loken syndrome Nephronophthisis 15 Tags
Green Green List (high evidence)	CEP290	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Orphanet Other Phenotypes 610189 611134 611755 610188 Joubert syndrome 5 Meckel syndrome 4 Senior-Loken syndrome 6 Joubert syndrome with oculorenal defect Meckel syndrome Senior-Loken syndrome Tags
Green Green List (high evidence)	CEP41	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Joubert syndrome 15 Tags
Green Green List (high evidence)	CEP83	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 18 615862 Tags
Green Green List (high evidence)	CRB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ventriculomegaly with cystic kidney disease 219730 Tags
Green Green List (high evidence)	CSPP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 21 Meckel syndrome Tags
Green Green List (high evidence)	DDX59	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Orofaciodigital syndrome V, 174300 Tags
Green Green List (high evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Smith-Lemli-Opitz syndrome 270400 Tags
Green Green List (high evidence)	DYNC2H1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 Tags
Green Green List (high evidence)	DYNC2LI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Short-rib throacic dysplasia 15 with polydactyly, 617088 Tags
Green Green List (high evidence)	EVC	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ellis-van Creveld syndrome, OMIM:225500 Tags
Green Green List (high evidence)	EVC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ellis-van Creveld syndrome, 225500 Weyers acrofacial dysostosis, 193530 Tags
Green Green List (high evidence)	GLI3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green UKGTN Phenotypes Greig cephalopolysyndactyly syndrome, OMIM:175700 Pallister-Hall syndrome, OMIM:146510 Tags
Green Green List (high evidence)	HNF1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Tags
Green Green List (high evidence)	HYLS1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hydrolethalus syndrome, 236680 Joubert syndrome Tags
Green Green List (high evidence)	ICK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651 Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 Tags new-gene-name
Green Green List (high evidence)	IFT122	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cranioectodermal dysplasia 1, 218330 Cranioectodermal dysplasia Tags
Green Green List (high evidence)	IFT140	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 Jeune syndrome Saldino-Mainzer syndrome Short-rib thoracic dysplasia 9 with or without polydactyly Mainzer-Saldino Syndrome Tags
Green Green List (high evidence)	IFT172	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Retinitis pigmentosa 71, 616394 Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 Jeune syndrome Saldino-Mainzer syndrome Short-rib thoracic dysplasia 10 with or without polydactyly Tags
Green Green List (high evidence)	IFT27	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 19, 615996 Tags
Green Green List (high evidence)	IFT43	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 18 with polydactyly, 617866 Cranioectodermal dysplasia 3, 614099 Sensenbrenner syndrome Tags
Green Green List (high evidence)	IFT52	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102 Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 Tags
Green Green List (high evidence)	IFT74	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes ?Bardet-Biedl syndrome 20, 617119 Tags
Green Green List (high evidence)	IFT80	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 Jeune syndrome Short-rib thoracic dysplasia 2 with or without polydactyly Tags
Green Green List (high evidence)	INPP5E	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Joubert syndrome Joubert syndrome 1 Tags
Green Green List (high evidence)	INVS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 2, infantile, 602088 Nephronophthisis Senior-Loken syndrome Tags
Green Green List (high evidence)	IQCB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Senior-Loken syndrome 5, 609254 Senior-Loken syndrome Tags
Green Green List (high evidence)	2q13 recurrent region (includes NPHP1) Loss ISCA-37405-Loss Region	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities 266900 609583 Tags
Green Green List (high evidence)	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss ISCA-37432-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes RCAD syndrome utero-vaginal atresia Schizophrenia 614527 delayed development, intellectual disability Renal cysts and diabetes syndrome Autism Spectrum Disorder Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females Chromosome 17q12 deletion syndrome global developmental delay Tags
Green Green List (high evidence)	KIAA0586	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Joubert syndrome Short-rib dysplasia 14 with polydactyly Short-rib thoracic dysplasia 14 with polydactyly Joubert syndrome 23 Tags
Green Green List (high evidence)	KIAA0753	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Orofaciodigital syndrome XV 617127 Short-rib skeletal dysplasia Joubert syndrome Tags
Green Green List (high evidence)	KIF7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 12 200990 Acrocallosal syndrome 200990 Tags
Green Green List (high evidence)	LAMA1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Poretti-Boltshauser syndrome OMIM:615960 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419 Tags
Green Green List (high evidence)	LZTFL1	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bardet-Biedl syndrome 17, 615994 Tags
Green Green List (high evidence)	MAPKBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephronophthisis 20 617271 Tags
Green Green List (high evidence)	MKKS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet‐Biedl syndrome 6 236700 Tags
Green Green List (high evidence)	MKS1	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Orphanet Other Phenotypes Meckel-Gruber syndrome Meckel syndrome Bardet-Biedl syndrome occipital encephalocele polycystic kidneys renal fibrosis polydactyly Joubert syndrome Meckel-Gruber syndrome 249000 Joubert syndrome 28 Tags
Green Green List (high evidence)	NEK1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 Short-rib thoracic dysplasia 6 with or without polydactyly Tags
Green Green List (high evidence)	NEK8	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Nephronophthisis 9, 613824 ?Renal-hepatic-pancreatic dysplasia 2, 615415 Nephronophthisis Renal-hepatic-pancreatic dysplasia Tags
Green Green List (high evidence)	NPHP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis Joubert syndrome 4 609583 Nephronophthisis 1, juvenile 256100 Senior-Loken syndrome-1, 266900 Senior-Loken syndrome Tags
Green Green List (high evidence)	NPHP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meckel syndrome 7, 267010 Nephronophthisis 3, 604387 Renal-hepatic-pancreatic dysplasia 1, 208540 Nephronophthisis Renal-hepatic-pancreatic dysplasia Senior-Loken syndrome Tags
Green Green List (high evidence)	NPHP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 4, 606966 Senior-Loken syndrome 4, 606996 Nephronophthisis Senior-Loken syndrome Tags
Green Green List (high evidence)	OFD1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Other Phenotypes Joubert syndrome 10 X-linked Joubert syndrome Orofaciodigital syndrome I Tags
Green Green List (high evidence)	PIBF1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Research Phenotypes Joubert syndrome vermis hypoplasia thick superior cerebellar peduncles superior cerebellar dysplasia ataxia developmental delay Tags
Green Green List (high evidence)	PKD1	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic kidney disease, adult type I, 173900 Autosomal recessive polycystic kidney disease (ARPKD) Autosomal dominant polycystic kidney disease (ADPKD) Tags
Green Green List (high evidence)	PKD2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic kidney disease 2, 613095 Tags
Green Green List (high evidence)	PKHD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic kidney and hepatic disease, 263200 Tags
Green Green List (high evidence)	PMM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Ia 212065 Tags
Green Green List (high evidence)	RPGRIP1L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome Meckel-Gruber syndrome Joubert syndrome 7 Meckel syndrome 5 Meckel syndrome Tags
Green Green List (high evidence)	SBDS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green UKGTN Phenotypes Skeletal Ciliopathies Tags
Green Green List (high evidence)	SCLT1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Oro-facio-digital syndrome type IX Senior-Løken Syndrome Tags gene-checked
Green Green List (high evidence)	SDCCAG8	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Phenotypes SENIOR-LOKEN SYNDROME Bardet-Biedl Syndrome 613615 Senior-Loken syndrome Tags
Green Green List (high evidence)	SUFU	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Joubert syndrome 32, OMIM:617757 Tags watchlist_moi
Green Green List (high evidence)	TBC1D32	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Orofaciodigital syndrome, MONDO:0015375 Tags gene-checked
Green Green List (high evidence)	TCTEX1D2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405 Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565 Jeune asphyxiating thoracic dystrophy JATD Tags new-gene-name
Green Green List (high evidence)	TCTN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Joubert syndrome Tags
Green Green List (high evidence)	TCTN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome, Meckel-Gruber syndrome Meckel syndrome Joubert syndrome 24 Tags
Green Green List (high evidence)	TCTN3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Orofaciodigital syndrome IV Joubert syndrome Meckel-Gruber Mohr-Majewski syndrome Joubert syndrome 18 Tags
Green Green List (high evidence)	TMEM107	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes ?Joubert syndrome 29 617562 Meckel syndrome 13 617562 Orofaciodigital syndrome XVI 617563 Tags
Green Green List (high evidence)	TMEM138	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome with oculorenal defect Joubert syndrome 16 Tags
Green Green List (high evidence)	TMEM216	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome: Meckel-Gruber syndrome Joubert syndrome with oculorenal defect Meckel syndrome Joubert syndrome 2 Tags
Green Green List (high evidence)	TMEM218	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 39, OMIM:619562 Tags gene-checked
Green Green List (high evidence)	TMEM231	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 20, 614970 Meckel syndrome 11, 615397 Joubert syndrome with oculorenal defect Meckel syndrome Joubert syndrome 20 Tags
Green Green List (high evidence)	TMEM237	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome Joubert syndrome with oculorenal defect Joubert syndrome 14 Tags
Green Green List (high evidence)	TMEM67	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Orphanet Other Phenotypes Meckel-Gruber syndrome Joubert syndrome COACH syndrome nephronophthisis ?Bardet-Biedl syndrome? 216360 607361 613550 610688 Meckel syndrome Senior-Boichis syndrome Nephronophthisis 11 Joubert syndrome 6 Tags
Green Green List (high evidence)	TRAF3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Phenotypes Senior-Loken syndrome 9 616629 Tags
Green Green List (high evidence)	TTC21B	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Orphanet Other UKGTN Phenotypes Nephronophthisis Nephronophthisis 12, 613820 Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 Jeune syndrome Short-rib thoracic dysplasia 4 with or without polydactyly Tags watchlist_moi
Green Green List (high evidence)	TTC8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet‐Biedl syndrome 8 Tags
Green Green List (high evidence)	TXNDC15	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Meckel-Gruber syndrome MGS Tags gene-checked
Green Green List (high evidence)	VPS13B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Cohen syndrome, 216550 COHEN SYNDROME Tags
Green Green List (high evidence)	WDPCP	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 15, 615992 ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Meckel syndrome Tags
Green Green List (high evidence)	WDR19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 13, 614377 Senior-Loken syndrome 8, 616307 ?Cranioectodermal dysplasia 4, 614378 ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 Cranioectodermal dysplasia Jeune syndrome Nephronophthisis Senior-Loken syndrome ?Short-rib thoracic dysplasia 5 with or without polydactyly Tags
Green Green List (high evidence)	WDR34	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Jeune syndrome Short-rib thoracic dysplasia 11 with or without polydactyly Tags new-gene-name
Green Green List (high evidence)	WDR35	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cranioectodermal dysplasia 2, 613610 Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 Cranioectodermal dysplasia Short-rib thoracic dysplasia 7 with or without polydactyly Tags
Green Green List (high evidence)	WDR60	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 Jeune syndrome Short-rib thoracic dysplasia 8 with or without polydactyly SHORT-RIB POLYDACTYLY Tags new-gene-name
Green Green List (high evidence)	XPNPEP3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159 nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Green Green List (high evidence)	ZSWIM6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Acromelic frontonasal dysostosis 603671 Tags curated-variant-list watchlist
Amber Amber List (moderate evidence)	EXOC3L2	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes anhydramnios echogenic kidneys hydrocephalus Dandy-Walker malformation enlarged echogenic kidneys Tags watchlist
Amber Amber List (moderate evidence)	FAM149B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Joubert syndrome oral-facial-digital syndrome OFD VI Tags
Amber Amber List (moderate evidence)	GLIS2	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 7, 611498 Nephronophthisis NPHP Tags watchlist
Amber Amber List (moderate evidence)	IFT81	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 Tags watchlist
Amber Amber List (moderate evidence)	POC1B	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber UKGTN Phenotypes Joubert Syndrome Senior-Loken Syndrome 24 gene panel Cone-rod dystrophy 20 615973 AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY Tags
Amber Amber List (moderate evidence)	ZNF423	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber Orphanet Other Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844 Tags
Red Red List (low evidence)	ACVR2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red Phenotypes ciliopathies Tags
Red Red List (low evidence)	ADGRV1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	AIPL1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	ARMC4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Ciliary dyskinesia, primary, 23, 615451 Tags new-gene-name
Red Red List (low evidence)	ATXN10	3 reviews 1 red	Other	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Ciliopathies Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	B9D1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meckel syndrome 9, OMIM:614209 Meckel syndrome 9, MONDO:0013630 Joubert syndrome 27, OMIM:617120 Joubert syndrome 27, MONDO:0014927 Tags polygenic
Red Red List (low evidence)	BBIP1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 18, 615995 Tags
Red Red List (low evidence)	C21orf59	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 26, 615500 Tags new-gene-name
Red Red List (low evidence)	C2orf71	2 reviews	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags new-gene-name
Red Red List (low evidence)	C8orf37	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Bardet-Biedl syndrome 21, 617406 Tags new-gene-name
Red Red List (low evidence)	CCDC103	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 17, 614679 Tags
Red Red List (low evidence)	CCDC114	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 20, 615067 Tags new-gene-name
Red Red List (low evidence)	CCDC151	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 30, 616037 Tags new-gene-name
Red Red List (low evidence)	CCDC28B	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes {Bardet-Biedl syndrome 1, modifier of}, 209900 ciliopathies Tags
Red Red List (low evidence)	CCDC39	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 14, 613807 ciliopathies Tags
Red Red List (low evidence)	CCDC40	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 14, 613807 ciliopathies Tags
Red Red List (low evidence)	CCDC65	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 27, 615504 Tags
Red Red List (low evidence)	CCNO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 29, 615872 Tags
Red Red List (low evidence)	CDH23	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	CFAP43	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spermatogenic failure 19, 617592 Tags
Red Red List (low evidence)	CFAP44	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes ?Spermatogenic failure 20 617593 Tags
Red Red List (low evidence)	CFAP53	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	CFC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	CFTR	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	CLRN1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	CRB1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	CRELD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red Phenotypes ciliopathies Tags
Red Red List (low evidence)	CRX	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	DCDC2	6 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Orphanet Radboud University Medical Center, Nijmegen Phenotypes Nephronophthisis 19, 616217 Neonatal sclerosing cholangitis Tags
Red Red List (low evidence)	DNAAF1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 13, 613193 ciliopathies Tags
Red Red List (low evidence)	DNAAF2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 10, 612518 ciliopathies Tags
Red Red List (low evidence)	DNAAF3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 2, 606763 ciliopathies Tags
Red Red List (low evidence)	DNAAF4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 25, 615482 {Dyslexia, susceptibility to, 1}, 127700 Tags
Red Red List (low evidence)	DNAAF5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	DNAH1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Spermatogenic failure 18, 617576 ?Ciliary dyskinesia, primary, 37, 617577 Tags
Red Red List (low evidence)	DNAH11	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 ciliopathies Tags
Red Red List (low evidence)	DNAH5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 ciliopathies Tags
Red Red List (low evidence)	DNAI1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 Tags
Red Red List (low evidence)	DNAI2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 Tags
Red Red List (low evidence)	DNAJB13	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	DNAL1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 16, 614017 Tags
Red Red List (low evidence)	DNHD1	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	DRC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 21, 615294 Tags
Red Red List (low evidence)	EXOC8	1 review 1 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) Tags
Red Red List (low evidence)	FOXH1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	GAS8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 33, 616726 Tags
Red Red List (low evidence)	GDF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red Tags
Red Red List (low evidence)	GUCY2D	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	HYDIN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	IMPDH1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	KCNJ13	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	KIAA0556	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes ?Joubert syndrome 26 Tags new-gene-name
Red Red List (low evidence)	KIF14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Orphanet Other Radboud University Medical Center, Nijmegen Phenotypes Meckel syndrome 12, OMIM:616258 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 Tags
Red Red List (low evidence)	LBR	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red UKGTN Phenotypes Skeletal Ciliopathies Tags
Red Red List (low evidence)	LCA5	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Leber congenital amaurosis 5, 604537 Ciliopathies Tags
Red Red List (low evidence)	LEFTY2	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	LRAT	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	LRRC6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 19, 614935 Tags new-gene-name
Red Red List (low evidence)	MCIDAS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	MUC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Tags
Red Red List (low evidence)	MYO7A	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	NKX2-5	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	NME8	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 6, 610852 Tags
Red Red List (low evidence)	NODAL	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red Tags
Red Red List (low evidence)	OCRL	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Dent disease 2, 300555 Lowe syndrome, 309000 Tags
Red Red List (low evidence)	PCDH15	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	PDE6D	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Joubert syndrome 22, 615665 Joubert Syndrome and Senior-Loken Syndrome 24 gene panel ?Joubert syndrome 22 Tags
Red Red List (low evidence)	POC1A	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 Tags
Red Red List (low evidence)	PRKCSH	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	RD3	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	RDH12	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	RPE65	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	RPGR	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Expert Review Red Tags
Red Red List (low evidence)	RPGRIP1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Orphanet Phenotypes Ciliopathies Meckel syndrome Tags
Red Red List (low evidence)	RSPH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 24, 615481 Tags
Red Red List (low evidence)	RSPH4A	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 11, 612649 Tags
Red Red List (low evidence)	RSPH9	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 12, 612650 Tags
Red Red List (low evidence)	SCNN1A	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	SCNN1B	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	SCNN1G	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	SEC63	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Tags
Red Red List (low evidence)	SPAG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 28, 615505 Tags
Red Red List (low evidence)	SPATA7	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Leber congenital amaurosis 3, 604232 Retinitis pigmentosa, juvenile, autosomal recessive, 604232 Ciliopathies Tags
Red Red List (low evidence)	TAPT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897 Tags
Red Red List (low evidence)	TOPORS	2 reviews	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	TRIM32	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Muscular dystrophy, limb-girdle, type 2H, 254110 ?Bardet-Biedl syndrome 11, 615988 Tags
Red Red List (low evidence)	TSC1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	TSC2	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	TTBK2	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia 11, 604432 Tags
Red Red List (low evidence)	TULP1	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Leber congenital amaurosis 15, 613843 Retinitis pigmentosa 14, 600132 Ciliopathies Tags
Red Red List (low evidence)	UMOD	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Tags
Red Red List (low evidence)	USH1C	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	USH1G	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	USH2A	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	VHL	1 review	Not set	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Erythrocytosis, familial, 2, 263400 Hemangioblastoma, cerebellar, somatic Pheochromocytoma, 171300 Renal cell carcinoma, somatic, 144700 von Hippel-Lindau syndrome, 193300 Ciliopathies Tags
Red Red List (low evidence)	WDR63	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes occipital encephalocele and inconsistent brain lobulation ciliopathy-like disorder Tags deletions new-gene-name
Red Red List (low evidence)	WHRN	2 reviews	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Ciliopathies Tags
Red Red List (low evidence)	ZIC3	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Expert Review Red Tags
Red Red List (low evidence)	ZMYND10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ciliary dyskinesia, primary, 22, 615444 Tags
No list No list	ATD	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Other Phenotypes Short-rib thoracic dysplasia 1 with or without polydactyly Tags curated_removed ensembl_ids_known_missing locus-type-phenotype-only
No list No list	TTC26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations Tags

Rare multisystem ciliopathy disorders (Version 1.171)

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